ESX1 ESX homeobox 1

Information
Symbol
ESX1
Type
protein-coding
Description
ESX homeobox 1
Entrez Gene ID
80712
Genome
hg19
Position
chrX:103,494,719-103,499,614
Genome
hg38
Position
chrX:104,250,038-104,254,933
MIM
300154 OMIM
HGNC
HGNC:14865 HGNC
Ensembl
ENSG00000123576 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Likely pathogenic 0 2
Benign 0 2
Likely benign 0 20
Conflicting classifications of pathogenicity 0 4
not provided 6 0
Uncertain significance 0 40
Ranking
ClinVar
0
0
4
60
0
Frequency
EXAC_EAS
EXAC_EAS
HGVD
HGVD
TOMMO
TOMMO
Gene
Position
EXAC_EAS
EXAC_EAS
HGVD
HGVD
TOMMO
TOMMO
Gene
Position
Disease area statistics
Locus Zoom
Variants
Search Word
Target data :
MGeND data only
Category :
Search word :
Filtering :
Variant name Gene AA change CDS Japanese
frequency		 TogoVar MGeND Genome ClinVar CIViC evidence DisGeNET entry COSMIC
occurrence		 Prediction
Entry Origin Type Annotation Entry Origin Annotation
Search Word
Target data :
MGeND data only
Category :
Search word :
Filtering :
Name MGeND Type Genome Size Chromosome Start Stop Ref Alt ClinVar Origin Entry CIViC evidence DisGeNET entry
Entry Origin Type Annotation
Search Word
Target data :
MGeND data only
Category :
Search word :
Filtering :
Name MGeND Type Genome Gene symbol Chromosome Genomic start Genomic stop Strand Ref Alt ClinVar Origin Entry CIViC evidence DisGeNET entry
Entry Origin Type Annotation
TypeID
SYNONYM ESX1L
SYNONYM ESXR1
MIM 300154 OMIM
HGNC HGNC:14865 HGNC
Ensembl ENSG00000123576 Ensembl
AllianceGenome HGNC:14865
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000372588.4 hg38 chrX 104,250,038 104,254,933 4,896
ENST00000372588.4 hg19 chrX 103,494,719 103,499,614 4,896
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